Results 191 to 200 of about 714,661 (305)

The impact of missense mutations on human behavior

Brain Research Bulletin, 2012
Mohajeri, M. Hasan, Giese, K. Peter
openaire   +3 more sources

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Functional impact of a conservative missense mutation in the Mycobacterium bovis BCG Moreau heat shock response regulator hrcA gene. [PDF]

BMC Microbiol
Gomes LHF, Antunes D, Correa PR, Schwarz MGA, Mendonça-Lima L.   +4 more
europepmc   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Missense mutation of <i>BMP1</i> may cause feline osteogenesis imperfecta without bone deformity. [PDF]

J Vet Diagn Invest
Takanosu M, Aoki H, Toshima A, Kagawa Y.
europepmc   +1 more source

Sheep Horn Development Revealed by Multi‐Tissue and Cross‐Species Transcriptomic Analysis

Animal Research and One Health, EarlyView.
Multi‐tissue and cross‐species transcriptomics with allele‐specific expression show sheep horns are a composite organ integrating epidermal and osteogenic programs. Conserved horn gene modules and cis‐regulatory variation fine‐tune expression networks underlying horn development and size (small scurs vs. large spiral horns).
Hao Li, Yuchen He, Yangshuo Hu, Naominggaowa, Huaiqiang Yang, Zhu Meng, Fei Liu, Shiwen Zhang, Yi Jin, Mingxing Chu, Zhangyuan Pan   +10 more
wiley   +1 more source

Gene therapy rescues cone function in an all-cone retina mouse model with the most common cone opsin C203R missense mutation. [PDF]

PLoS One
Cahill ME, Chmelik K, Brothers BA, Ashcraft ME, Guan T, Puja A, Xiang Y, Shaw LM, Du J, Deng WT.   +9 more
europepmc   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene. [PDF]

Clin Case Rep
Li T, Liu T, Li L, Liu Y, Zhang Q, Cheng X, Li Z.   +6 more
europepmc   +1 more source

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source